ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2982del (p.Gln995fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Department, University Hospital of Angers RCV004698804 SCV004697989 likely pathogenic Coffin-Siris syndrome 6 2024-02-01 criteria provided, single submitter clinical testing

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